A largest case series study of spinocerebellar ataxia type 2(SCA2) from India: Do SCA2 clinical subtypes exists?
Objective: To study the extent of phenotypic variability in SCA2 families of Indian origin and to identify factors associated with it. Background: SCA2 is a…Clinical and analytical validation of novel autosomal recessive ataxia mutations identified from whole exome sequencing
Objective: To establish clinical significance of novel recessive ataxia mutations by phenotype-genotype correlation and screening of mutations in second cohort of recessive ataxia patients and…Prolonged cerebellar syndrome after Legionnaire’s disease
Objective: Present rare case of ataxia and tremor one year following Legionella infection with CNS symptoms. Background: Transient, acute neurological syndromes may occur in patients…A unique phenotype associated with anti-GAD antibodies
Objective: To describe a case of hemiatiaxia, parkinsonism, and dystonia associated with anti-Glutamic Acid Decarboxylase (GAD) antibodies. Background: GAD antibodies have been implicated in endocrinopathies…Iron accumulation and volume loss in the extrapyramidal motor system in Friedreich ataxia: The IMAGE-FRDA study
Objective: To examine whether iron dysregulation and neurodegeneration influences the motor system outside of the cerebellum in Friedreich ataxia (FRDA). Background: FRDA is an autosomal…European pediatric normative values for the scale for assessment and rating of ataxia (SARA)
Objective: To obtain international age-related normative values for the SARA in healthy European children. Background: The Scale for Assessment and Rating of Ataxia (SARA) is…Hereditary spastic paraplegia caused by heterozygous AFG3L2 and SPG7 mutations
Objective: To report a new late-onset autosomal recessive spastic paraplegia caused by heterozygous mutations in the AFG3L2 and SPG7 genes. Background: The hereditary spastic paraplegias…A novel causal mutation for spinocerebellar ataxia 19/22 (SCA19)
Objective: We report a novel cause for SCA19. We obtained longitudinal exam data on the index case, and data on other family members. We conducted…Neurologic phenotipic variability in spinocerebelar ataxia hype 2 (SCA2)
Objective: Describe the clinical findings of a Brazilian cohort of SCA2 patients, stratify them according the presence of sub-phenotypes: cognitive deterioration, sensory loss, amiotrophy, parkinsonism…Long-term impact of lead poisoning on neurologic function in children and adolescents
Objective: To elucidate (1) whether prolonged effects of lead exposure are persistently reflected by impaired neurological parameters and (2) whether these outcomes can be attributed…